NGS Flashcards
SNP array
SNP= Single Nucleotide Polymorpism
In SNP array, millions of probes are attacked to…
…a slide called a BeadChip
Sequence is extended using labelled nucleotides:
A & T= Red
C & G= Green
In SNP, fragmented patient DNA is…
…hybridised to the probes
Laser excites the dye which…
releases fluorescence
Fluorescence intensity is used to
identify copy number changes- deletions/duplications
What is an SNP?
-An SNP (single nucleotide polymorphism) is a variation in a single DNA building block (nucleotide) at a specific location in the genome.
-Think of it like a typo in the genetic code, where one “letter” (nucleotide) is different between individuals.
What is NGS?
NGS (Next-Generation Sequencing) is a modern technology that allows scientists to read the DNA of organisms quickly and in great detail.
How does NGS work?
1). Cutting DNA into Pieces: Think of your DNA as a giant cookbook. NGS starts by cutting this big book into many small pieces.
2). Copying Pieces: These small pieces of DNA are then copied many times to make sure there’s enough of them to read.
3). Reading the Pieces: The DNA pieces are put into a special machine that can read the “letters” of the DNA (A, T, C, G) very quickly.
4). Putting the Pieces Together: After reading all the small pieces, a computer puts them back together in the right order, like reassembling the pages of our cookbook.
Why is NGS important?
- Speed: NGS can read millions of DNA pieces at once, making it much faster than older methods.
-Detail: It gives a very detailed picture of an organism’s DNA, helping scientists understand more about genes and how they work.
-Uses: NGS is used in many fields, like identifying diseases, studying genetics, and even in forensics to solve crimes.